GHR, growth hormone receptor, 2690

N. diseases: 247; N. variants: 46
Disease: Growth Hormone Insensitivity Syndrome ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121909366
rs121909366 		0.925 0.200 5 42699892 missense variant G/C snv 1.2E-05
CUI: C4318479
Disease: Growth Hormone Insensitivity Syndrome
Growth Hormone Insensitivity Syndrome 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 1998 1998